The etiology of VACTERL association: Current knowledge and hypotheses

BD Solomon - American Journal of Medical Genetics Part C …, 2018 - Wiley Online Library
VACTERL association is a condition involving the presence of multiple congenital
anomalies. The condition was first described more than four decades ago, and is not …

The genetic landscape and clinical implications of vertebral anomalies in VACTERL association

Y Chen, Z Liu, J Chen, Y Zuo, S Liu, W Chen… - Journal of medical …, 2016 - jmg.bmj.com
VACTERL association is a condition comprising multisystem congenital malformations,
causing severe physical disability in affected individuals. It is typically defined by the …

[HTML][HTML] Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

P Saisawat, S Kohl, AC Hilger, DY Hwang, HY Gee… - Kidney international, 2014 - Elsevier
Congenital abnormalities of the kidney and urinary tract (CAKUT) account for approximately
half of children with chronic kidney disease and they are the most frequent cause of end …

Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study

R van De Putte, IALM Van Rooij, CLM Marcelis… - Pediatric …, 2020 - nature.com
Abstract Background The VACTERL (Vertebral anomalies, Anal atresia, Cardiac
malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) …

A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23. 1

Y Li, P Liu, W Wang, H Jia, Y Bai, Z Yuan, Z Yang - Pediatric Research, 2024 - nature.com
The mechanism underlying anorectal malformations (ARMs)-related VACTERL (vertebral
defects, anal atresia, cardiac defects, tracheo–esophageal fistula, and renal and limb …

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

EMMA Martin, A Enriquez, DB Sparrow… - Human molecular …, 2020 - academic.oup.com
The genetic causes of multiple congenital anomalies are incompletely understood. Here, we
report novel heterozygous predicted loss-of-function (LoF) and predicted damaging …

Underlying genetic factors of the VATER/VACTERL association with special emphasis on the “Renal” phenotype

H Reutter, AC Hilger, F Hildebrandt, M Ludwig - Pediatric Nephrology, 2016 - Springer
The acronym VATER/VACTERL association (OMIM# 192350) refers to the rare non-random
co-occurrence of the following component features (CFs): vertebral defects (V), anorectal …

Considering the embryopathogenesis of VACTERL association

RE Stevenson, AGW Hunter - Molecular syndromology, 2013 - karger.com
The nonrandom co-occurrence of vertebral, anorectal, cardiac, tracheoesophageal,
genitourinary, and limb malformations, recognized as the VACTERL association, has not …

Maternal risk factors for the VACTERL association: A EUROCAT case–control study

R van de Putte, IALM Van Rooij… - Birth defects …, 2020 - Wiley Online Library
Abstract Background The VACTERL association (VACTERL) is the nonrandom occurrence
of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheoesophageal …

[HTML][HTML] Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky …

T Bjørsum-Meyer, M Herlin, N Qvist… - Journal of medical case …, 2016 - Springer
Background The vertebral defect, anal atresia, cardiac defect, tracheoesophageal
fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky …